Browsing by Author "Yilmaz, Resul"

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    Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child
    (2015) Yilmaz, Resul; Sezer, Taner; Esmeray, Haluk; 0000-0001-7672-8100; 0000-0002-2278-1827; A-2825-2012; AAJ-5931-2021
    Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.
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    Prevalence of Proteinuria in School-Aged Turkish Children, and Its Association with Obesity and Hypertension
    (2017) Kazanci, Nafia Ozlem; Gul, Ali; Ozer, Samet; Yilmaz, Resul; Sonmezgoz, Ergun; Kasap, Tuba; Takci, Sahin; Unuvar, Seyma; Onder, Yalcin; Citil, Riza
    Aim: In kidney diseases, renal damage may be mild and initially asymptomatic. Proteinuria, a marker of kidney injury, directly contributes to chronic tubulointerstitial damage. We investigated the prevalence of proteinuria (POP) in school-aged children in Turkey. Materials and Methods: The cluster sampling method was used to calculate the required size of the study group for this cross-sectional study. Urine samples were randomly obtained to determine urinary protein/creatinine ratio (Upr/Ucr) from 1374 children aged 6 to 18 years. POP was also specifically assessed in hypertensive and obese children. Results: The mean age of the subjects was 11.68 +/- 3.43 years. The children were from rural (23.9%) and urban (76.1%) regions of Tokat, Turkey. Upr/Ucr >= 0.20 was detected in 92 children, corresponding to a POP rate of 6.7%, without any statistically significant difference between girls and boys. Among 141 obese children, 16 (11.3%) and 76 of 1233 non-obese children (6.2%) had proteinuria (p<0.05). Children with hypertension had a POP of 7.5% compared to the 6.7% of those without hypertension (p>0.05). Conclusion: Among school-aged Turkish children POP was 6.7%. POP was higher in obese than in non-obese children. But there was no association between POP and hypertension. While screening programs allow the early detection of renal disease, further cohort studies are required to be able to suggest urinary screening programs.